ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005593 SCV005632134 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005005593 SCV005823613 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-02-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 107 of the SGCG protein (p.Ser107Leu). This variant is present in population databases (rs772017929, gnomAD 0.01%). This missense change has been observed in individual(s) with limb girdle muscular dystophy (PMID: 3076484, 36992678). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SGCG protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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